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LRAT Gene

protein-coding   GIFtS: 64
GCID: GC04P155549

Lecithin Retinol Acyltransferase (Phosphatidylcholine--Retinol...

  See LRAT-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Lecithin Retinol Acyltransferase (Phosphatidylcholine--Retinol
O-Acyltransferase)1 2
EC 2.3.1.1353 8
LCA142 5
Lecithin Retinol Acyltransferase2
Phosphatidylcholine--Retinol O-Acyltransferase3

External Ids:    HGNC: 66851   Entrez Gene: 92272   Ensembl: ENSG000001212077   OMIM: 6048635   UniProtKB: O952373   
ORGUL members:         

Export aliases for LRAT gene to outside databases

Previous GC identifers: GC04P156514 GC04P156050 GC04P156239 GC04P156019 GC04P155881 GC04P155665 GC04P151405


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LRAT Gene:
The protein encoded by this gene is a microsomal enzyme that catalyzes the esterification of all-trans-retinol
into all-trans-retinyl ester, an essential reaction for the retinoid cycle in visual system and vitamin A status
in liver. Mutations in this gene have been associated with early-onset severe retinal dystrophy. (provided by
RefSeq, Jul 2008)

GeneCards Summary for LRAT Gene:
LRAT (lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)) is a protein-coding gene. Diseases associated with LRAT include lrat-related leber congenital amaurosis, and retinal dystrophy, early-onset, severe. GO annotations related to this gene include transferase activity, transferring acyl groups and retinol binding.

UniProtKB/Swiss-Prot: LRAT_HUMAN, O95237
Function: Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing
all-trans retinyl esters. Retinyl esters are storage forms of vitamin A. LRAT plays a critical role in vision. It
provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into
11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11
cis-retinol is oxidized and converted into 11-cis-retinaldehyde which is the chromophore for rhodopsin and the
cone photopigments

Gene Wiki entry for LRAT (Lecithin retinol acyltransferase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LRAT gene promoter:
         TBP   Sox5   Lmo2   Nkx2-5   FOXL1   MEF-2A   Pax-3   HFH-1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLRAT promoter sequence
   Search Chromatin IP Primers for LRAT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LRAT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q32.1   Ensembl cytogenetic band:  4q31.3   HGNC cytogenetic band: 4q32.1

LRAT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRAT gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P155549:  view genomic region     (about GC identifiers)

Start:
155,548,097 bp from pter      End:
155,674,270 bp from pter
Size:
126,174 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LRAT_HUMAN, O95237 (See protein sequence)
Recommended Name: Lecithin retinol acyltransferase  
Size: 230 amino acids; 25703 Da
Secondary accessions: A8K983 Q8N716

Explore the universe of human proteins at neXtProt for LRAT: NX_O95237

Explore proteomics data for LRAT at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for LRAT (O95237)
     HYGIYLG  ILVNHLD  VASIRVDTVEDFAYGA 


    See LRAT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004735.2  
    ENSEMBL proteins: 
     ENSP00000422324   ENSP00000426761   ENSP00000337224  
    Reactome Protein details: O95237

    LRAT Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for LRAT 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR007053 LRAT-like_dom

    Graphical View of Domain Structure for InterPro Entry O95237

    ProtoNet protein and cluster: O95237

    1 Blocks protein domain: IPB007053 NC

    UniProtKB/Swiss-Prot: LRAT_HUMAN, O95237
    Similarity: Belongs to the H-rev107 family


    Find genes that share domains with LRAT           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LRAT_HUMAN, O95237
    Function: Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing
    all-trans retinyl esters. Retinyl esters are storage forms of vitamin A. LRAT plays a critical role in vision. It
    provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into
    11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11
    cis-retinol is oxidized and converted into 11-cis-retinaldehyde which is the chromophore for rhodopsin and the
    cone photopigments
    Catalytic activity: Phosphatidylcholine + retinol--[cellular-retinol-binding-protein] =
    2-acylglycerophosphocholine + retinyl-ester--[cellular-retinol-binding-protein]
    Enzyme regulation: Inhibited by all-trans-retinyl alpha-bromoacetate and N-boc-L-biocytinyl-11-aminoundecane
    chloro-methyl ketone (BACMK)
    Induction: LRAT activity is up-regulated by dietary vitamin A. Under conditions of vitamin A depletion, LRAT
    expression in the liver is induced by retinoic acid (By similarity)

         Enzyme Number (IUBMB): EC 2.3.1.1351 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001972retinoic acid binding IEA--
    GO:0008374O-acyltransferase activity ----
    GO:0016746transferase activity, transferring acyl groups TAS9920938
    GO:0019841retinol binding IEA--
    GO:0047173phosphatidylcholine-retinol O-acyltransferase activity IEA--
         
    Find genes that share ontologies with LRAT           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Lrat):
     embryogenesis  endocrine/exocrine gland  homeostasis/metabolism  nervous system  reproductive system 
     vision/eye 

    Find genes that share phenotypes with LRAT           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for LRAT: Lrattm1Log Lrattm1Kpal Lrattm1.1Bok

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LRAT
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LRAT
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LRAT

    miRNA
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    miRTarBase miRNAs that target LRAT:
    hsa-mir-335-5p (MIRT017703)

    Block miRNA regulation of human, mouse, rat LRAT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LRAT (see all 23):
    hsa-miR-140-5p hsa-miR-362-3p hsa-miR-944 hsa-miR-23a hsa-miR-34b hsa-miR-613 hsa-miR-3148 hsa-miR-192*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LRAT_HUMAN, O95237: Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity). Rough
    endoplasmic reticulum (By similarity). Endosome, multivesicular body (By similarity). Cytoplasm, perinuclear
    region (By similarity). Note=Present in the rough endoplasmic reticulum and multivesicular body in hepatic
    stellate cells. Present in the rough endoplasmic reticulum and perinuclear region in endothelial cells (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    endosome4
    extracellular2
    plasma membrane2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005771multivesicular body ISS--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005791rough endoplasmic reticulum ISS--
    GO:0016021integral component of membrane IEA--
    GO:0043231intracellular membrane-bounded organelle ----

    Find genes that share ontologies with LRAT           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for LRAT About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1the visual cycle I (vertebrates)
    the visual cycle I (vertebrates)0.52
    The canonical retinoid cycle in rods (twilight vision)0.44
    retinol biosynthesis0.52
    2Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    Retinoid metabolism and transport0.44
    3The phototransduction cascade
    Visual signal transduction- Rods0.51
    Visual signal transduction- Cones0.39
    4Signaling by GPCR
    Signal Transduction0.58
    5Chemical carcinogenesis
    Retinol metabolism0.35


    Find genes that share SuperPaths with LRAT           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for LRAT
        Visual Cycle in Retinal Rods

    1 GeneGo (Thomson Reuters) Pathway for LRAT
        Retinol metabolism

    5 BioSystems Pathways for LRAT
        Vitamin A and carotenoid metabolism
    Visual signal transduction- Cones
    Visual signal transduction- Rods
    the visual cycle I (vertebrates)
    retinol biosynthesis


    2 Reactome Pathways for LRAT
        Retinoid metabolism and transport
    The canonical retinoid cycle in rods (twilight vision)


    2 Kegg Pathways  (Kegg details for LRAT):
        Retinol metabolism
    Vitamin digestion and absorption

    UniProtKB/Swiss-Prot: LRAT_HUMAN, O95237
    Pathway: Cofactor metabolism; retinol metabolism

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LRAT
    Interactions:

        GeneGlobe Interaction Network for LRAT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for LRAT (O952373 ENSP000003372244) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBP1P094553, ENSP000002322194I2D: score=1 STRING: ENSP00000232219
    RBP2P501203, ENSP000002322174I2D: score=1 STRING: ENSP00000232217
    ADH1AENSP000002096684STRING: ENSP00000209668
    ADH7ENSP000002096654STRING: ENSP00000209665
    CES1ENSP000003537204STRING: ENSP00000353720
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0006776vitamin A metabolic process IEA--
    GO:0007601visual perception IEA--
    GO:0007603phototransduction, visible light TAS--
    GO:0009790embryo development IEA--

    Find genes that share ontologies with LRAT           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LRAT

    Selected HMDB Compounds for LRAT (see all 1146)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PC(O-16:0/18:2(9Z,12Z))1-hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine (see all 5)88542-95-412486725
    1-Butanol1-Butanol (see all 10)71-36-3--
    1-Hexanol1-Hexyl alcohol (see all 30)111-27-3--
    1-Pentanol1-Pentol (see all 34)71-41-0--
    11-cis-Retinolcis-11-Retinol (see all 2)22737-96-8--
    Ethanol1-Hydroxyethane (see all 57)64-17-5--
    Isobutanol1-Hydroxymethylpropane (see all 18)78-83-1--
    Isopropyl alcohol2-Propanol (see all 12)67-63-0--
    PC(14:0/14:0)Phosphatidylcholine(14:0/14:0) (see all 8)----
    PC(14:0/14:1(9Z))Phosphatidylcholine(14:0/14:1) (see all 14)----

    1 DrugBank Compound for LRAT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Vitamin A[11,12-3H]-Retinol (see all 18)68-26-8target--16174770 16054134

    Selected Novoseek inferred chemical compound relationships for LRAT gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinyl ester 93 15 8228637 (3), 12741839 (2), 1988047 (1), 17114808 (1) (see all 9)
    11-cis-retinol 92.5 5 9862453 (2), 12755610 (1), 15928609 (1), 2010433 (1)
    vitamin a 87.6 143 8504149 (6), 14704332 (5), 11108736 (5), 1322170 (5) (see all 50)
    retinoid 83.9 15 14611939 (1), 18400900 (1), 19339306 (1), 17011878 (1) (see all 10)
    lecithin 66.8 8 12009892 (1), 8448136 (1), 14596594 (1), 11231005 (1) (see all 6)
    retinoic acid 60.6 52 14704332 (4), 8663081 (4), 11108736 (3), 19171200 (2) (see all 12)
    betacarotene 54.1 5 10466750 (2), 11250537 (1), 8504149 (1)
    retinyl palmitate 42.4 1 8228637 (1)
    phosphatidylcholine 38.1 3 17114808 (1), 2271700 (1), 11108736 (1)
    isotretinoin 33.4 1 8319203 (1)



    Find genes that share compounds with LRAT           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LRAT gene: 
    NM_004744.3  

    Unigene Cluster for LRAT:

    Lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
    Hs.658427  [show with all ESTs]
    Unigene Representative Sequence: AY546085
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000500890 ENST00000502525 ENST00000499392(uc003iol.3) ENST00000507827
    ENST00000336356(uc003ion.1) ENST00000510733(uc003iom.1) ENST00000502474
    ENST00000510919
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate LRAT (see all 23):
    hsa-miR-140-5p hsa-miR-362-3p hsa-miR-944 hsa-miR-23a hsa-miR-34b hsa-miR-613 hsa-miR-3148 hsa-miR-192*
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      QuantiFast Probe-based Assays in human, mouse, rat LRAT

    Additional mRNA sequence: 

    AF071510.1 AK292598.1 AY546085.1 AY546086.1 BC031053.1 

    6 DOTS entries:

    DT.40273019  DT.99935586  DT.40238407  DT.95093889  DT.99967328  DT.121230965 

    22 AceView cDNA sequences:

    AY546086 NM_004744 BI480893 BC031053 AY546085 AA400777 BQ432839 BX506745 
    BU568311 AA393342 N46104 W90617 BI461423 AA232216 AF071510 BX093249 
    R97712 BF243399 AV746564 AA243120 W90642 N67162 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for LRAT    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c
    SP1:        -                 -     -     -     -                     
    SP2:                                      -                           
    SP3:                                                                  
    SP4:                                                                  


    ECgene alternative splicing isoforms for LRAT

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    LRAT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAAATAAAG
    LRAT Expression
    About this image


    LRAT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
             Retinal pigmented epithelial-like cells
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     NULL (Sensory Organs)
             Retinal pigmented epithelial-like cells
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 4 entries
             Line H9 (Naive)
     
     Testis (Reproductive System)
    LRAT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LRAT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.658427

    UniProtKB/Swiss-Prot: LRAT_HUMAN, O95237
    Tissue specificity: Hepatic stellate cells and endothelial cells (at protein level). Found at high levels in
    testis and liver, followed by retinal pigment epithelium, small intestine, prostate, pancreas and colon. Low
    expression observed in brain. In fetal tissues, expressed in retinal pigment epithelium and liver, and barely in
    the brain

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for LRAT gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lrat1 , 5 lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase)1, 5 81.14(n)1
    80.26(a)1
      3 (36.81 cM)5
    792351  NM_023624.41  NP_076113.11 
     828925795 
    chicken
    (Gallus gallus)
    Aves LRAT1 lecithin retinol acyltransferase (phosphatidylcholine--retinol more 71.3(n)
    65.65(a)
      422403  XM_420371.4  XP_420371.2 
    lizard
    (Anolis carolinensis)
    Reptilia LRAT6
    lecithin retinol acyltransferase (phosphatidylchol...
    68(a)
    1 ↔ 1
    5(130142216-130157238)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC758802 lecithin retinol acyltransferase 71.96(n)    BC061345.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lratb1 lecithin retinol acyltransferase b (phosphatidylcholine--retinol more 60.32(n)
    59.73(a)
      553501  XM_001921155.2  XP_001921190.2 


    ENSEMBL Gene Tree for LRAT (if available)
    TreeFam Gene Tree for LRAT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LRAT (see all 217)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0183864
    Leber congenital amaurosis 14 (LCA14)4--see VAR_0183862 S R mis40--------
    rs1048938481,2
    Cpathogenic1155458564(+) ATCAGA/C/TCCCCA 2 R S mis10--------
    rs753687611,2
    C,Funtested1155458113(+) GCTCTT/ATAGTT 2 /Y /F mis12Minor allele frequency- A:0.01WA NA 4668
    rs170319811,2
    C,F,Huntested1155458381(+) GTGGAG/AGACTT 2 /E syn1 ese310Minor allele frequency- A:0.10NA NS EA CSA WA EU 6424
    rs1878790771,2
    --155455726(+) TTGGCA/GCTTTC 1 -- us2k10--------
    rs170319781,2
    C,F--155455732(+) CTTTCC/TCAGAA 1 -- us2k17Minor allele frequency- T:0.11NA WA 378
    rs1923128511,2
    --155455962(+) CGTCCA/GCTGGC 1 -- us2k10--------
    rs1844662021,2
    --155456068(+) AACAAA/CAGTCA 1 -- us2k10--------
    rs768992131,2
    F--155456359(+) TACATA/CATGCA 1 -- us2k12Minor allele frequency- C:0.06CSA WA 120
    rs1503122021,2
    --155456371(+) TAGCAC/TGGAAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for LRAT (155548097 - 155674270 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for LRAT: --
    Human Gene Mutation Database (HGMD): LRAT
    Locus Specific Mutation Databases (LSDB): LRAT

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing LRAT
    DNA2.0 Custom Variant and Variant Library Synthesis for LRAT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604863   
    OMIM disorders: 613341  
    UniProtKB/Swiss-Prot: LRAT_HUMAN, O95237
  • Leber congenital amaurosis 14 (LCA14) [MIM:613341]: A severe dystrophy of the retina, typically becoming
    evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish
    or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 7 diseases for LRAT:    
    About MalaCards
    lrat-related leber congenital amaurosis    retinal dystrophy, early-onset, severe    retinitis pigmentosa, juvenile    lrat-related retinitis pigmentosa
    severe early-childhood-onset retinal dystrophy    leber congenital amaurosis    leber congenital amaurosis 17

    2 diseases from the University of Copenhagen DISEASES database for LRAT:
    Fundus dystrophy     Leber congenital amaurosis

    Find genes that share disorders with LRAT           About GenesLikeMe

    Selected Novoseek inferred disease relationships for LRAT gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lebers congenital amaurosis 91.7 5 17438524 (2), 19339306 (1), 17011878 (1)
    retinitis pigmentosa 65 5 17438524 (2), 17011878 (1), 18055816 (1)
    retinal degeneration 54.1 2 11133845 (1)
    night blindness 52 1 17011878 (1)
    vitamin a deficiency 36.9 1 14704332 (1)
    renal cancer 25.7 2 14581364 (2)
    carcinoma 11.9 5 11912136 (1), 11162450 (1), 14581364 (1), 11062150 (1) (see all 5)
    carcinoma squamous cell 0 1 10737902 (1)
    tumors 0 19 14581364 (3), 15161698 (3), 17016651 (2), 11289161 (1) (see all 9)
    melanoma 0 1 12419830 (1)

    GeneTests: LRAT
    GeneReviews: LRAT
    Genetic Association Database (GAD): LRAT
    Human Genome Epidemiology (HuGE) Navigator: LRAT (5 documents)

    Export disorders for LRAT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LRAT gene, integrated from 10 sources (see all 108):
    (articles sorted by number of sources associating them with LRAT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular and biochemical characterization of lecithin retinol acyltransferase. (PubMed id 9920938)1, 2, 3, 9 Ruiz A.... Bok D. (J. Biol. Chem. 1999)
    2. Lecithin: retinol acyltransferase protein is distributed in both hepatic stellate cells and endothelial cells of normal rodent and human liver. (PubMed id 18544127)1, 2, 9 Nagatsuma K....Matsuura T. (Liver Int. 2009)
    3. Screening genes of the retinoid metabolism: novel LRAT mutation in Leber congenital amaurosis. (PubMed id 17011878)1, 2, 9 Senechal A.... Hamel C.P. (Am. J. Ophthalmol. 2006)
    4. Lecithin retinol acyltransferase contains cysteine residues essential for catalysis. (PubMed id 10819989)1, 2, 9 Mondal M.S.... Rando R.R. (Biochemistry 2000)
    5. A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. (PubMed id 18823527)1, 4, 9 Abraham R....Kirov G. (BMC Med Genomics 2008)
    6. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. (PubMed id 11381255)1, 2, 9 Thompson D.A.... Gal A. (Nat. Genet. 2001)
    7. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    8. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. (PubMed id 20591486)1, 4 Clark G.R.... Simpson D.A. (Ophthalmology 2010)
    9. Intermediate phenotypes identify divergent pathways to Alzheimer's disease. (PubMed id 20574532)1, 4 Shulman J.M....De Jager P.L. (PLoS ONE 2010)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9227 HGNC: 6685 AceView: LRAT Ensembl:ENSG00000121207 euGenes: HUgn9227
    ECgene: LRAT Kegg: 9227 H-InvDB: LRAT

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LRAT Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LRAT gene:
    Search GeneIP for patents involving LRAT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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